Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Using High-Resolution Melting Analysis and a Clinical Scoring System
The Journal of Pediatrics, 05/18/2012
Chen ST et al. – High–resolution melting (HRM) analysis was efficient and effective in detecting mutations. Three common mutations comprised the majority of mutations found in patients. The IVS4+6A>G polymorphism was associated with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). A scoring system may help to differentiate patients with NICCD from those with biliary atresia.